KEGG   DISEASE: Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)Help
Entry
H00540                      Disease                                

Name
Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID);
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
Description
A rare X-linked recessive syndrome 'Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency', abbreviated as OLEDAID, is caused by termination codon mutations in the NEMO gene which encodes the essential modulator of NF-kappa B.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00540  Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00540  Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
hsa04062  Chemokine signaling pathway
hsa04210  Apoptosis
hsa04380  Osteoclast differentiation
hsa04660  T cell receptor signaling pathway
hsa04662  B cell receptor signaling pathway
Gene
IKBKG [HSA:8517] [KO:K07210]
Other DBs
ICD-11: LD27.0Y
ICD-10: Q78.2
MeSH: C536181
OMIM: 300301
Reference
  Authors
Hubeau M, Ngadjeua F, Puel A, Israel L, Feinberg J, Chrabieh M, Belani K, Bodemer C, Fabre I, Plebani A, Boisson-Dupuis S, Picard C, Fischer A, Israel A, Abel L, Veron M, Casanova JL, Agou F, Bustamante J
  Title
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
  Journal
Blood 118:926-35 (2011)
DOI:10.1182/blood-2010-10-315234
Reference
  Authors
Brouillard P, Vikkula M
  Title
Genetic causes of vascular malformations.
  Journal
Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
DOI:10.1093/hmg/ddm211
Reference
  Authors
Wang QK
  Title
Update on the molecular genetics of vascular anomalies.
  Journal
Lymphat Res Biol 3:226-33 (2005)
DOI:10.1089/lrb.2005.3.226
Reference
  Authors
Balemans W, Van Wesenbeeck L, Van Hul W
  Title
A clinical and molecular overview of the human osteopetroses.
  Journal
Calcif Tissue Int 77:263-74 (2005)
DOI:10.1007/s00223-005-0027-6
Reference
  Authors
Del Fattore A, Cappariello A, Teti A
  Title
Genetics, pathogenesis and complications of osteopetrosis.
  Journal
Bone 42:19-29 (2008)
DOI:10.1016/j.bone.2007.08.029
Reference
  Authors
Schulz A, Kornak U
  Title
CLCN7-Related Osteopetrosis
  Journal
GeneReviews (1993)

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